Comprehensive Guidance Updated for Genetic Testing in Kids

Updating policies written over the past two decades, the American Academy of Pediatrics (AAP) and the American College of Medical Genetics and Genomics (ACMG) have issued a comprehensive joint statement about genetic testing and screening of newborns and children. The new statement was issued in light of rapid proliferation of genetic testing and rise of new technologies since the initial sequencing of the human genome. The technical report was published Feb. 21 online in Genetics in Medicine to coincide with the online release of the policy statement in Pediatrics on Feb. 21.

Regardless of the testing circumstance, the groups emphasize two themes—the best interest of the child and that genetic testing should be offered with genetic counseling, which is acknowledged to be in short supply and will compel better genetics education among other health care providers. In the most straightforward situation, diagnostic genetic testing in symptomatic children is similar to any other medical diagnostic evaluation. However, the groups write “if the medical benefits of a test are uncertain, will not be realized until a later time, or do not clearly outweigh the medical risks, the justification for testing is less compelling.”

The statement though, does not entirely rule out predictive genetic tests in asymptomatic children, although the groups do differentiate childhood-onset from adult-onset conditions. Parents are encouraged to pursue predictive genetic testing for asymptomatic children at risk of childhood-onset conditions, while predictive testing for adult-onset conditions is only advised if medical interventions during childhood are available to treat, prevent, or retard the later course of the disease.  The AAP and ACMG also addressed genetic testing of children in other situations:

Newborn screening. The AAP and ACMG support the mandatory offering of newborn screening for all children but believe parents have a right to have informed refusal. If carriers are identified during screening, carrier status should be disclosed.

Carrier screening. The groups do not support routine carrier testing or screening for recessive conditions if carrier status has no medical relevance during childhood.

Histocompatability testing. Tissue compatibility testing of minors of all ages for stem cell donation is permissible to benefit immediate family members, the groups say.

Disclosure of results
. Ideally, health care providers and parents or guardians should address disclosure issues before genetic testing. A provider’s legal duty to disclose results remains “unsettled.”

Direct-to-consumer genetic testing. The AAP and the ACMG strongly discourage the use of DTC and home-kit genetic testing of children.

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